ArticleAmerican journal of respiratory and critical care medicine2016
High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.
Article in American journal of respiratory and critical care medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 90 citations in OpenAlex.
- Bronchoalveolar lavage characteristics correlate with HLA tag SNPs in patients with Löfgren's syndrome and other sarcoidosis.Clinical and experimental immunology · 2019Trial
- Quality of Life in Sarcoidosis.Diagnostics (Basel, Switzerland) · 2026Review
- Article
- Sarcoidosis in the Genomic Era: From Genetic Drivers to Tailored Therapies.Current allergy and asthma reports · 2025Review
- Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis.International journal of molecular sciences · 2025Article
- GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis.Nature communications · 2025Article
- Article
- WASOG 2023 conference highlights.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2024Article
- Examination of eQTL Polymorphisms Associated with Increased Risk of Progressive Complicated Sarcoidosis in European and African Descent Subjects.European journal of respiratory medicine · 2023Article
- Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility.Human molecular genetics · 2023Article
- Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Genetic and geographic influence on phenotypic variation in European sarcoidosis patients.Frontiers in medicine · 2023Article
- Sex differences in the genetics of sarcoidosis across European and African ancestry populations.Frontiers in medicine · 2023Article
- From Karl Wurm and Guy Scadding's staging toFrontiers in medicine · 2023Article
- Association between sarcoidosis and HLA polymorphisms in a Czech population from Central Europe: focus on a relationship with clinical outcome and treatment.Frontiers in medicine · 2023Article
- Functional link between sarcoidosis-associated gene variants and quantitative levels of bronchoalveolar lavage fluid cell types.Frontiers in medicine · 2023Article
- Pentraxin 3 Inhibits Complement-driven Macrophage Activation to Restrain Granuloma Formation in Sarcoidosis.American journal of respiratory and critical care medicine · 2022Article
- HLA class II variants defined by next generation sequencing are associated with sarcoidosis in Korean patients.Scientific reports · 2022Article
- Pulmonary granulomatosis of genetic origin.European respiratory review : an official journal of the European Respiratory Society · 2021Review
- Epigenetics and sarcoidosis.European respiratory review : an official journal of the European Respiratory Society · 2021Review
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Authors and funding
21 authors at 11 institutions in 6 countries.
Funding
Abstract
rationaleSarcoidosis is a multisystem disease of unknown cause. Löfgren's syndrome (LS) is a characteristic subgroup of sarcoidosis that is associated with a good prognosis in sarcoidosis. However, little is known about its genetic architecture or its broader phenotype, non-LS sarcoidosis.
objectivesTo address the genetic architecture of sarcoidosis phenotypes, LS and non-LS.
methodsAn association study in a white Swedish cohort of 384 LS, 664 non-LS, and 2,086 control subjects, totaling 3,134 subjects using a fine-mapping genotyping platform was conducted. Replication was performed in four independent cohorts, three of white European descent (Germany, n = 4,975; the Netherlands, n = 613; and Czech Republic, n = 521), and one of black African descent (United States, n = 1,657), totaling 7,766 subjects. MEASUREMENTS AND MAIN
resultsA total of 727 LS-associated variants expanding throughout the extended major histocompatibility complex (MHC) region and 68 non-LS-associated variants located in the MHC class II region were identified and confirmed. A shared overlap between LS and non-LS defined by 17 variants located in the MHC class II region was found. Outside the MHC region, two LS-associated loci, in ADCY3 and between CSMD1 and MCPH1, were observed and replicated.
conclusionsComprehensive and integrative analyses of genetics, transcription, and pathway modeling on LS and non-LS indicates that these sarcoidosis phenotypes have different genetic susceptibility, genomic distributions, and cellular activities, suggesting distinct molecular mechanisms in pathways related to immune response with a common region.
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